Christoph Bachmann

<i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Irina Zaharieva, Anna Sárközy, Pinki Munot et al. · Human Mutation · 2018 · 57 citations · Full text

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength

Moran Elbaz, Alexis Ruiz, Christoph Bachmann et al. · Human Molecular Genetics · 2019 · 28 citations · Full text

Cardiac Muscle, Muscle Function, Molecular Biology +19

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to<i>MTM1</i>mutations

Christoph Bachmann, Heinz Jungbluth, Francesco Muntoni et al. · Human Molecular Genetics · 2016 · 26 citations · Full text

Muscle Function, Xlmtm Patients, Cytoskeleton +26

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance

Alexis Ruiz, Erez Dror, Christoph Handschin et al. · Scientific Reports · 2018 · 24 citations · Full text

Cellular, Biochemical and Molecular Changes in Muscles from Patients with X-Linked Myotubular Myopathy due to MTM1 Mutations

Susan Treves, Christoph Bachmann, Heinz Jungbluth et al. · Biophysical Journal · 2017 · 21 citations · Full text

Mitochondrial Myopathy, Mechanobiology, X-linked Myotubular Myopathy +14